(Q51524444)

6 April 2018

title

Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. (English)

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6 April 2018

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C Sathya Priya

1

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6 April 2018

P Sen

2

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V Umashankar

3

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N Gupta

4

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M Kabra

5

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G Kumaramanickavel

6

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C Stoetzel

7

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H Dollfus

8

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S Sripriya

9

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publication date

18 February 2014

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published in

Clinical Genetics

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volume

87

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issue

2

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6 April 2018

page(s)

161-166

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6 April 2018

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

cites work

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Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome

21 January 2018

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Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling

21 January 2018

1 reference

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

21 January 2018

1 reference

Bardet-Biedl syndrome: a rare case report from North India

21 January 2018

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Exploring the molecular basis of Bardet-Biedl syndrome

21 January 2018

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Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

21 January 2018

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Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.

21 January 2018

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21 January 2018

Bardet-Biedl syndrome.

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Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.

21 January 2018

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Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

21 January 2018

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Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/CGE.12342

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6 April 2018

PubMed ID

24400638

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6 April 2018